Search results for GALT

Showing 8 results out of 8

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Species

Types

Compartments

Reaction types

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Protein (4 results from a total of 4)

Identifier: R-HSA-70356
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: GALT: P07902
Identifier: R-HSA-5610004
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: GALT: P07902
Identifier: R-HSA-5610009
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: P07902
Identifier: R-HSA-5610008
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: P07902

Set (1 results from a total of 1)

Identifier: R-HSA-5610006
Species: Homo sapiens
Compartment: cytosol

Pathway (1 results from a total of 1)

Identifier: R-HSA-5609978
Species: Homo sapiens
Galactose-1-phosphate uridylyltransferase (GALT) is one of the enzymes involved in galactose metabolism in the Leloir pathway. GALT catalyses the transfer of uridine monophosphate (UMP) from UDP-glucose (UDP-Glc) to galactose-1-phosphate (Gal1P) to form UDP-galactose (UDP-Gal) and glucose 1-phosphate. Defects in GALT can cause Galactosemia (GALCT; MIM:230400), an autosomal recessive disorder of galactose metabolism presenting in neonatals that causes jaundice, cataracts and mental retardation (Bosch 2006).

Reaction (2 results from a total of 2)

Identifier: R-HSA-5610038
Species: Homo sapiens
Compartment: cytosol
Galactose-1-phosphate uridylyltransferase (GALT) is one of the enzymes involved in galactose metabolism in the Leloir pathway. GALT catalyses the transfer of uridine monophosphate (UMP) from UDP-glucose (UDP-Glc) to galactose-1-phosphate (Gal1P) to form UDP-galactose (UDP-Gal). Defects in GALT can cause Galactosemia (GALCT; MIM:230400), an autosomal recessive disorder of galactose metabolism presenting in neonatals that causes jaundice, cataracts, and mental retardation. Q188R, K285N are the most common mutations in US Caucasians (Reichardt et al. 1991, Elsas et al. 1994). S135L is the most common mutation of the American black population (Lai et al. 1996). Protein misfolding is likely to be the underlying molecular cause in the majority of cases (McCorvie et al. 2013).
Identifier: R-HSA-70361
Species: Homo sapiens
Compartment: cytosol
Cytosolic galactose-1-phosphate uridylyltransferase (GALT) catalyzes the reaction of alpha-D-galactose 1-phosphate and UDP glucose to form D-glucose 1-phosphate and UDP galactose (Reichardt & Woo 1991).
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